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glykogenóza, typ VIII

  1. Subject h.glykogenóza, typ VIII
    Subject h.Glycogen Storage Disease Type VIII
    Entry termschoroba z ukladania glykogénu, typ VIII
    glykogenóza 8
    English X referencesGlycogenosis 8
    Scope note in EnglishAn x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon.
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